title: Molecular detection and correction of ornithine transcarbamylase deficiency.
abstract: The application of new diagnostic techniques has led to improvement in carrier detection and prenatal diagnosis in ornithine transcarbamylase deficiency. Progress has also been made towards somatic gene therapy.
authors.affiliation: Institute for Molecular Genetics, Baylor College of Medicine, Houston, TX 77030.
authors.forename: M
authors.initials: M
authors.lastname: Grompe
authors.forename: S N
authors.initials: SN
authors.lastname: Jones
authors.forename: C T
authors.initials: CT
authors.lastname: Caskey
mesh_terms: D000818:Animals; D005260:Female; D005796:Genes; D006580:Genetic Carrier Screening; D015316:Genetic Therapy; D006801:Humans; D008297:Male; D051379:Mice; D009154:Mutation; D009954:Ornithine Carbamoyltransferase / Q000235:genetics / Q000378:metabolism; D020163:Ornithine Carbamoyltransferase Deficiency Disease; D011296:Prenatal Diagnosis
chemical_list: D009954:Ornithine Carbamoyltransferase